Understanding and treating a genetic condition that affects movement in children
Development of a Translational Research Platform to Understand and treat Defective Protein Trafficking in Childhood-Onset Hereditary Spastic Paraplegia
This study is looking at how certain genes affect movement problems in children with hereditary spastic paraplegia and is testing new treatments that might help improve their nerve function and overall health.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11083563 on NIH RePORTER |
What this research studies
This research focuses on hereditary spastic paraplegia (HSP), a group of neurodegenerative conditions that primarily affect children and lead to progressive movement difficulties. The study aims to investigate the role of specific genes involved in protein trafficking that are crucial for nerve function. By developing neuronal models and testing new compounds, the research seeks to identify potential therapies that could restore normal protein function and improve outcomes for affected children. The approach includes screening small molecules that can enhance the distribution of a key protein involved in nerve health.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with hereditary spastic paraplegia, particularly those with specific genetic mutations affecting protein trafficking.
Not a fit: Patients with hereditary spastic paraplegia caused by genetic mutations not related to the adaptor protein complex 4 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that halt or reverse the progression of movement disabilities in children with hereditary spastic paraplegia.
How similar studies have performed: While research into hereditary spastic paraplegia is ongoing, this specific approach targeting protein trafficking is relatively novel and has not been extensively tested in clinical settings.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Ebrahimi-Fakhari, Darius — Boston Children's Hospital
- Study coordinator: Ebrahimi-Fakhari, Darius
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.